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Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations.
Otolaryngology - Head and Neck Surgery 1986 September
Oculopharyngeal muscular dystrophy is an autosomal dominant myopathy that exhibits the symptoms of progressive dysphagia, with ptosis usually occurring after the age of 40. Literature review of this rare disease reveals a high incidence in the French-Canadian population, as well as in five other ethnic groups. Our article details the clinical history and genealogy of the disease through four generations in a family of English descent. Radiographic studies show a cricopharyngeal bar and aspiration. Results of electron microscopic examination of muscle biopsy specimens from the vastus lateralis and cricopharyngeus muscles confirm a chronic, active, severe, myopathic process that is more pronounced in the cricopharyngeus muscle. The recommended treatment for blepharoptosis and the cricopharyngeus muscle pathosis is discussed.
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